X染色体短臂缺失，46，XXp-
Short arm deletion of an X chromosome, 46,XXp-.
作者信息
Kaiser P, Zabel B, Hansen S, Daume E
出版信息
Hum Genet. 1976 Apr 15;32(1):89-100. doi: 10.1007/BF00569982.
PMID:1262028
Abstract
A 27-year-old patient of short stature with primary amenorrhea and other slight Turner signs showed a 46,XX,del(X) (qter leads to p11:) karyotype, identified by a combination of fluorescence and giemsa-banding technique. By BUdR incorporation the deleted X chromosome was shown to be the late replicating one.
摘要
一名27岁身材矮小的患者，有原发性闭经及其他轻微特纳综合征体征，其核型为46,XX,del(X)(qter导致p11:)，通过荧光和吉姆萨显带技术联合鉴定得出。通过溴脱氧尿苷掺入法显示，缺失的X染色体是晚复制的那条。
Zotero 插件